Results 81 to 90 of about 3,144,487 (302)

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report

Case Reports in Ophthalmology, 2012
Background: Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal
Settimio Rossi, Francesco Testa, Annagiusi Gargiulo, Valentina Di Iorio, Raffaella Brunetti Pierri, Francesco Maria D’Alterio, Michele Della Corte, Enrico Surace, Francesca Simonelli   +8 more
doaj   +1 more source

Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang, Wanru Chen, Xiangpen Li, Hengjian Lu, Chenguang Li, Xiaoni Zhang, Lulu Bu, Xiaoyu Xu, Qingyu Shen, Ying Peng   +9 more
wiley   +1 more source

Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

Pesquisa Veterinária Brasileira, 2010
Foi realizado um estudo dos defeitos congênitas diagnosticados em bovinos, ovinos e bubalinos mediante revisão dos protocolos de necropsia do Laboratório Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas entre 1978 e ...
Clairton Marcolongo-Pereira, Ana Lucia Schild, Mauro Pereira Soares, Sergio F Vargas Jr, Franklin Riet-Correa   +4 more
doaj   +1 more source

Genetic heterogeneity in autosomal dominant optic atrophy [PDF]

, 2002
Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Maumenee, Irene Hussels, Sallum, Juliana Maria Ferraz [UNIFESP], Farah, Michel Eid [UNIFESP], Maumenee,Irene Hussels, Sallum,Juliana Maria Ferraz, Farah,Michel Eid   +5 more
core   +1 more source

EyeLncDB: A curated database of human long non-coding RNAs related to eye diseases

, 2021
Background: Eye diseases (EDs) are disorders of the ocular system, causing visual damage and sightlessness. Different studies have specified a wide range of biological functions of LncRNAs; consequently, their dysfunction directs to several diseases such
Pournoor, Ehsan, Meshkin, Alireza
core   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

Auslander algebras as quasi-hereditary algebras [PDF]

, 1989
Dlab V, Ringel CM. Auslander algebras as quasi-hereditary algebras. Journal of the London Mathematical Society : Ser. 2.
Dlab, Vlastimil, Ringel, Claus Michael
core  

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source